Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu

F. Salvi, C. Scaglione, R. Michelucci, R. P. Linke, L. Obici, A. Ravani, P. Rimessi, A. Ferlini, S. Meletti, T. Cavallaro, C. A. Tassinari, P. Martinelli

Research output: Contribution to journalArticlepeer-review

Abstract

Two sisters from an Italian family shared progressive motor symptoms, preceding the onset of sensory and autonomic disturbances. The familial occurrence of axonal and slowly progressivepolyneuropathy led us to consider these patients as candidates for TTR molecular analysis. We found a missense mutation causing Ile68Leu TTR substitution in both. The aims of this work are to report the possibility of a motor onset of amyloid polyneuropathy and to suggest the search for TTR mutations in familial cases of axonal polyneuropathy. Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation.

Original languageEnglish
Pages (from-to)185-189
Number of pages5
JournalAmyloid
Volume10
Issue number3
Publication statusPublished - Sep 2003

Keywords

  • Amyloid
  • FAP
  • Leptomeninges
  • Motor neuropathy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

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